Cardiovascular Pathology最新文献

{"title":"Subclinical maternal autoimmune disease leading to congenital high degree atrioventricular block: Case report and review of the literature","authors":"Shelby E. Walcott ,&nbsp;Christian H. Tan ,&nbsp;Jason Wicker ,&nbsp;Silvio Litovsky","doi":"10.1016/j.carpath.2024.107634","DOIUrl":"10.1016/j.carpath.2024.107634","url":null,"abstract":"<div><p>Maternal autoimmune disease is the most common cause of congenital heart block (CHB), a rare illness characterized by fibrosis and calcification of the fetal atrioventricular (AV) node due to maternal autoantibodies anti-SSA/Ro and anti-SSB/La. We report the full autopsy and clinical information on a female neonate with high degree AV block and calcification in the AV node, atrial approaches to the AV node, and both right and left bundle branches, born to a 27-year-old female with subclinical autoimmune disease.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"72 ","pages":"Article 107634"},"PeriodicalIF":3.7,"publicationDate":"2024-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140173842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas","authors":"Annette Zimpfer ,&nbsp;Liza M. Abel ,&nbsp;Anthony Alozie ,&nbsp;Christian D. Etz ,&nbsp;Björn Schneider","doi":"10.1016/j.carpath.2024.107632","DOIUrl":"10.1016/j.carpath.2024.107632","url":null,"abstract":"<div><h3>Purpose</h3><p>Cardiac myxomas (CMs) are the second most common benign primary cardiac tumors, mainly originating within the left atrium. Approximately 5% of CM cases are associated with Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome often caused by germline mutations in the protein kinase A regulatory subunit 1A (<em>PRKAR1A</em>). Data concerning <em>PRKAR1A</em> alterations in sporadic myxomas are variable and sparse, with <em>PRKAR1A</em> mutations reported to range from 0% to 87%. Therefore, we investigated the frequency of <em>PRKAR1A</em> mutations in sporadic CM using next-generation sequencing (NGS). Additionally, we explored mutations in the catalytic domain of the Protein Kinase A complex (<em>PRKACA</em>) and examined the presence of GNAS mutations as another potential driver.</p></div><div><h3>Methods and results</h3><p>This study retrospectively collected histological and clinical data from 27 patients with CM. First, we ruled out the possibility of underlying CNC through clinical evaluations and standardized interviews for each patient. Second, we performed PRKAR1A immunohistochemistry (IHC) analysis and graded the reactivity of myxoma cells semi-quantitatively. NGS was then applied to analyze the coding regions of <em>PRKAR1A, PRKACA</em>, and <em>GNAS</em> in all 27 cases. Of the 27 sporadic CM cases, 13 (48%) harbored mutations in <em>PRKAR1A</em>. Among these 13 mutant cases, six displayed more than one mutation in <em>PRKAR1A</em>. Most of the identified mutations resulted in premature stop codons or affected splicing. In <em>PRKAR1A</em> mutant CM cases, the loss of PRKAR1A protein expression was significantly more common. In two cases with missense mutations, protein expression remained preserved. Furthermore, a single mutation was detected in the catalytic domain of the protein kinase A complex, while no GNAS mutations were found.</p></div><div><h3>Conclusion</h3><p>We identified a relatively high frequency of <em>PRKAR1A</em> mutations in sporadic CM. These <em>PRKAR1A</em> mutations may also represent an important oncogenic mechanism in sporadic myxomas, as already known in CM cases associated with CNC.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107632"},"PeriodicalIF":3.7,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1054880724000280/pdfft?md5=2fcc0d004762127ec052c78c89587047&pid=1-s2.0-S1054880724000280-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency","authors":"Jiayu Jing ,&nbsp;Cui Zhang ,&nbsp;Sihao Du,&nbsp;Xiaohui Tan,&nbsp;Xia Yue,&nbsp;Dongfang Qiao","doi":"10.1016/j.carpath.2024.107630","DOIUrl":"10.1016/j.carpath.2024.107630","url":null,"abstract":"<div><p>A female neonate born with normal Apgar scores at 38+2 weeks of gestational age unexpectedly passed away within less than 30 hours after birth. The situation mirrored her brother's earlier demise within 24 hours post-delivery, suggesting a possible genetic disorder. Gross examination revealed widespread cyanosis and distinct yellowish changes on the cardiac ventricles. Histopathological examination disclosed lipid accumulation in the liver, heart, and kidneys. Tandem mass spectrometry detected elevated levels of 10 amino acids and 14 carnitines in cardiac blood. Trio-whole genome sequencing (Trio-WGS) identified the <em>SLC25A20 c.199-10T&gt;G</em> mutation associated with carnitine-acylcarnitine translocase disease (CACTD), a type of fatty acid oxidation disorders (FAODs) with a potential for sudden death. Further validation of gene expression confirmed the functional deficiency of <em>SLC25A20</em>, ultimately diagnosing CACTD as the underlying cause of the neonate's demise. This case highlights the importance of prenatal metabolic and genetic screening for prospective parents and emphasizes the need for forensic doctors to integrate metabolomic and genomic investigations into autopsies for suspected inherited metabolic diseases.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"70 ","pages":"Article 107630"},"PeriodicalIF":3.7,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140136497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sudden unexpected intrapartum death and left ventricular noncompaction involving the right ventricle","authors":"Giulia Ottaviani ,&nbsp;Tobia Tomasello ,&nbsp;Francesca Boggio ,&nbsp;Letterio Runza ,&nbsp;Alessandro Del Gobbo ,&nbsp;L. Maximilian Buja","doi":"10.1016/j.carpath.2024.107633","DOIUrl":"10.1016/j.carpath.2024.107633","url":null,"abstract":"<div><p>Left ventricular noncompaction (LVNC), involving mainly the right ventricle, is a rare form of congenital heart disorder characterized by a developmental arrest in myocardial compaction, resulting in a spongy appearance of the myocardium, mainly of the right ventricle, rarely detected in fetuses. We report the case of a female fetus with a gestational age of 41⁺⁴ weeks who came to our attention for intrapartum sudden unexpected death, resulting in stillbirth. The ventricular walls, particularly the right ventricular wall, appeared thick, hypertrabeculated and spongy, leading to the diagnosis of LVNC involving mainly the right ventricle. The atrioventricular node and His bundle presented areas of fetal dispersion and resorptive degeneration; islands of conduction tissue were detected in the central fibrous body. Arcuate nucleus of the brainstem showed bilateral severe hypoplasia. The right bundle branch was hypoplastic. The final cause of death was an electrical conduction disfunction in an LVNC involving mainly the right ventricle. To the best of our knowledge, the herein described case is the first reported observation of sudden intrapartum death from LVNC involving mainly the right ventricle well documented post-mortem with cardiac conduction and brainstem studies. Our findings confirm the need of an accurate post-mortem examination including the study of the cardiac conduction system on serial section in every case of sudden unexpected fetal death, although there are no universally recognized guidelines.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107633"},"PeriodicalIF":3.7,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1054880724000292/pdfft?md5=50ba7f190e5d602ba2a9d8957da23fc3&pid=1-s2.0-S1054880724000292-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140126382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aortic valve fibroelastoma presenting with myocardial infarction with non-obstructive coronary arteries (MINOCA): A case report and review of the literature","authors":"Martino Pepe ,&nbsp;Rocco Tritto ,&nbsp;Maria Ludovica Naccarati ,&nbsp;Simona Quarta ,&nbsp;Andrea Marzullo ,&nbsp;Marco Matteo Ciccone","doi":"10.1016/j.carpath.2024.107631","DOIUrl":"10.1016/j.carpath.2024.107631","url":null,"abstract":"<div><p>Cardiac papillary fibroelastomas (CPFs) are rare benign cardiac tumors more often involving the left-sided valves and related with threatening embolic complications. We report the case of a 35-year-old woman presenting with relapsing-remitting chest pain and elevated cardiac troponins. After a negative coronary angiography, an integrated imaging assessment based on echocardiography and cardiac magnetic resonance showed a pedunculated mass on the aortic valve causing an intermittent obstructive engagement of the right coronary ostium. A tailored surgical treatment was performed and the histopathological examination of the specimen revealed mesenchymal tissue with the characteristics of CPF.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107631"},"PeriodicalIF":3.7,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The potential involvement of glycocalyx disruption in abdominal aortic aneurysm pathogenesis","authors":"Bibi Rabia ,&nbsp;Shivshankar Thanigaimani ,&nbsp;Jonathan Golledge","doi":"10.1016/j.carpath.2024.107629","DOIUrl":"10.1016/j.carpath.2024.107629","url":null,"abstract":"<div><h3>Background</h3><p>Abdominal aortic aneurysm is a weakening and expansion of the abdominal aorta. Currently, there is no drug treatment to limit abdominal aortic aneurysm growth. The glycocalyx is the outermost layer of the cell surface, mainly composed of glycosaminoglycans and proteoglycans.</p></div><div><h3>Objective</h3><p>The aim of this review was to identify a potential relationship between glycocalyx disruption and abdominal aortic aneurysm pathogenesis.</p></div><div><h3>Methods</h3><p>A narrative review of relevant published research was conducted.</p></div><div><h3>Results</h3><p>Glycocalyx disruption has been reported to enhance vascular permeability, impair immune responses, dysregulate endothelial function, promote extracellular matrix remodeling and modulate mechanotransduction. All these effects are implicated in abdominal aortic aneurysm pathogenesis. Glycocalyx disruption promotes inflammation through exposure of adhesion molecules and release of proinflammatory mediators. Glycocalyx disruption affects how the endothelium responds to shear stress by reducing nitric oxide availabilty and adversely affecting the storage and release of several antioxidants, growth factors, and antithromotic proteins. These changes exacerbate oxidative stress, stimulate vascular smooth muscle cell dysfunction, and promote thrombosis, all effects implicated in abdominal aortic aneurysm pathogenesis. Deficiency of key component of the glycocalyx, such as syndecan-4, were reported to promote aneurysm formation and rupture in the angiotensin-II and calcium chloride induced mouse models of abdominal aortic aneurysm.</p></div><div><h3>Conclusion</h3><p>This review provides a summary of past research which suggests that glycocalyx disruption may play a role in abdominal aortic aneurysm pathogenesis. Further research is needed to establish a causal link between glycocalyx disruption and abdominal aortic aneurysm development.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"70 ","pages":"Article 107629"},"PeriodicalIF":3.7,"publicationDate":"2024-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1054880724000255/pdfft?md5=6b2b4fb6d4585c367969f632fea3a9db&pid=1-s2.0-S1054880724000255-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140093437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"3D models of the cardiac conduction system in healthy neonatal human hearts","authors":"Brian Cottle ,&nbsp;Karl Schriewer ,&nbsp;Sarthak Tiwari ,&nbsp;Dylan Miller ,&nbsp;Aditya Kaza ,&nbsp;Robert Hitchcock ,&nbsp;Frank B. Sachse","doi":"10.1016/j.carpath.2024.107626","DOIUrl":"10.1016/j.carpath.2024.107626","url":null,"abstract":"<div><p>Iatrogenic damage to the cardiac conduction system (CCS) remains a significant risk during congenital heart surgery. Current surgical best practice involves using superficial anatomical landmarks to locate and avoid damaging the CCS. Prior work indicates inherent variability in the anatomy of the CCS and supporting tissues. This study introduces high-resolution, 3D models of the CCS in normal pediatric human hearts to evaluate variability in the nodes and surrounding structures. Human pediatric hearts were obtained with an average donor age of 2.7 days. A pipeline was developed to excise, section, stain, and image atrioventricular (AVN) and sinus nodal (SN) tissue regions. A convolutional neural network was trained to enable precise multi-class segmentation of whole-slide images, which were subsequently used to generate high- resolution 3D tissue models. Nodal tissue region models were created. All models (10 AVN, 8 SN) contain tissue composition of neural tissue, vasculature, and nodal tissues at micrometer resolution. We describe novel nodal anatomical variations. We found that the depth of the His bundle in females was on average 304 μm shallower than those of male patients. These models provide surgeons with insight into the heterogeneity of the nodal regions and the intricate relationships between the CCS and surrounding structures.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"70 ","pages":"Article 107626"},"PeriodicalIF":3.7,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140064966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fibromuscular dysplasia of subclavian artery: A case report and mini-review","authors":"Vaclav Stejskal ,&nbsp;Katerina Vejvalkova ,&nbsp;Monika Manethova ,&nbsp;Alexander Hudak ,&nbsp;Igor Gunka","doi":"10.1016/j.carpath.2024.107628","DOIUrl":"10.1016/j.carpath.2024.107628","url":null,"abstract":"<div><p>A case of a 40-year-old male patient with a right subclavian artery aneurysm of fibromuscular dysplasia origin is reported. The patient presented with thoracic outlet-like symptoms and underwent aneurysm resection. Microscopic examination revealed intimal and medial fibroplasia. Additional cases of fibromuscular dysplasia at this rare location are reviewed, indicating a male and right-sided predominance. The most frequent clinicopathological manifestation was an aneurysm, with the histopathological pattern characterized by medial fibroplasia. Treatment modalities included the use of either graft prosthesis or end-to-end anastomosis.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107628"},"PeriodicalIF":3.7,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140058685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multisystem Erdheim-Chester disease presenting with pericardial effusion confirmed by the effusion cytology specimen","authors":"Shishuo Dai ,&nbsp;Xueying Su ,&nbsp;Wei-ping Liu ,&nbsp;Yu Wu","doi":"10.1016/j.carpath.2024.107625","DOIUrl":"10.1016/j.carpath.2024.107625","url":null,"abstract":"<div><p>Erdheim-Chester disease (ECD) is a rare histiocytosis characterized by the foamy CD68+CD1a- histiocytes infiltrating multiple organs and tissues. ECD might be asymptomatic or present with variable manifestations. The diagnosis of ECD requires characteristic radiological findings and pathological features. Herein, we described a 52-year-old female patient who was admitted to our hospital for recurrent pericardial effusion for two months. She has a medical history of papillary thyroid carcinoma (PTC) and underwent a total thyroidectomy two years before admission. The radiological findings suggested a potential diagnosis of ECD. Cytological analysis of the effusion cytology specimen revealed CD68+CD1a⁻ histiocytes, confirming the ECD diagnosis. The BRAF V600E mutation was identified in the histiocytes, prompting the administration of vemurafenib, a BRAF inhibitor. After two months of standard-dose vemurafenib treatment, the disease was well controlled with pericardial effusion regression.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"70 ","pages":"Article 107625"},"PeriodicalIF":3.7,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139989405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transthyretin-derived amyloid (ATTR) and sarcoidosis: Does ATTR deposition cause a granulomatous inflammatory response in older adults with sarcoidosis?","authors":"Shojiro Ichimata ,&nbsp;Yukiko Hata ,&nbsp;Kazuhiro Nomoto ,&nbsp;Naoki Nishida","doi":"10.1016/j.carpath.2024.107624","DOIUrl":"10.1016/j.carpath.2024.107624","url":null,"abstract":"<div><p>This study aimed to assess the frequency and association between transthyretin-derived (ATTR) amyloidosis and sarcoidosis in a large autopsy cohort including many cases of sudden cardiac death (SCD). We identified 73 sporadic ATTR amyloidosis cases and 11 sarcoidosis cases, among which we found two cases with concomitant ATTR amyloidosis and sarcoidosis (2.4% of all cases; 2.7% within the sporadic ATTR group). The first case involved a 92-year-old man who experienced SCD. In this patient's heart, we observed ATTR deposition and noncaseating epithelioid granulomas consistent with sarcoidosis. Focally, ATTR deposits and granulomas co-localized, with histiocyte phagocytosis of transthyretin-immunoreactive fragments. However, in most lesions, they were distributed independently. The second case was that of an 86-year-old woman who also experienced SCD. In this patient, we detected ATTR deposition in the heart and lung, while noncaseating epithelioid granulomas were only observed in the lung, liver, kidney, and thyroid. Furthermore, no co-localization of the two lesions was observed. Based on these findings, we concluded that the coexistence of ATTR amyloidosis and sarcoidosis was likely coincidental. Nevertheless, despite the rarity of the combination of these two diseases, it should be recognized as a potential cause of SCD, especially among elderly people.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"70 ","pages":"Article 107624"},"PeriodicalIF":3.7,"publicationDate":"2024-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139982435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}